Linked Data
ClinVar Variation Id:
376713
ClinVar RCV Id:
RCV000422585
dbSNP Id:
rs1057520019
COSMIC:
COSM28497
PubMed:
PMID:18724359
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29222362A>C , CM000664.2:g.29222362A>C | GRCh38 |
| NC_000002.11:g.29445228A>C , CM000664.1:g.29445228A>C | GRCh37 |
| NC_000002.10:g.29298732A>C | NCBI36 |
| NG_009445.1:g.704205T>G , LRG_488:g.704205T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3497T>G MANE Select | ENSP00000373700.3:p.Met1166Arg | |
| ENST00000431873.6:c.724T>G | ||
| ENST00000638605.1:n.374T>G | ||
| ENST00000642122.1:c.293T>G | ENSP00000493203.1:p.Met98Arg | |
| ENST00000389048.7:c.3497T>G | ENSP00000373700.3:p.Met1166Arg | |
| ENST00000431873.5:c.377T>G | ENSP00000414027.2:p.Met126Arg | |
| ENST00000453137.1:c.191T>G | ENSP00000387488.1:p.Met64Arg | |
| ENST00000618119.4:c.2366T>G | ENSP00000482733.1:p.Met789Arg | |
| NM_004304.4:c.3497T>G | NP_004295.2:p.Met1166Arg | |
| NM_001353765.1:c.293T>G | NP_001340694.1:p.Met98Arg | |
| XM_024452778.1:c.650T>G | XP_024308546.1:p.Met217Arg | |
| XM_024452779.1:c.293T>G | XP_024308547.1:p.Met98Arg | |
| NM_004304.5:c.3497T>G MANE Select | NP_004295.2:p.Met1166Arg | |
| NM_001353765.2:c.293T>G | NP_001340694.1:p.Met98Arg |